MYOTONIC DYSTROPHY TYPE 1 (DM1) MUTATION ANALYSIS, EDTA BLOOD

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This test detects abnormal CTG repeat expansions in the DMPK gene associated with Myotonic Dystrophy Type 1 (DM1), the most common inherited adult muscular dystrophy. DM1 can cause progressive muscle weakness, myotonia, cardiac conduction defects, respiratory difficulties, and cataracts. Early genetic confirmation plays an important role in diagnosis, clinical management, prognosis evaluation, and family screening. Metropolis Healthcare performs this mutation analysis using advanced molecular techniques on EDTA blood, ensuring precise and reliable results for informed medical care

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Price: Rs. 7,720.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: M0095

Frequently Asked Questions (FAQ's):

What does the DM1 Mutation Analysis test detect?
This test identifies CTG repeat expansions in the DMPK gene responsible for Myotonic Dystrophy Type 1.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced molecular testing methods to accurately detect and size CTG repeat expansions.

Who should take this test?
Individuals with symptoms like muscle stiffness, worsening muscle weakness, conduction abnormalities of the heart, or a family history of DM1 may need this test.

What sample type is required for this analysis?
EDTA whole blood is required for DNA extraction and mutation evaluation.

Is fasting required for this test?
No, fasting is not necessary before sample collection.

How can results from Metropolis Healthcare help doctors?
Results support diagnosis, help predict disease severity, guide treatment planning, and assist in family counseling for inherited risks.

Can this test detect carriers?
Yes, it can identify carriers to help evaluate genetic transmission within families.

Does Metropolis Healthcare provide genetic counseling support?
Yes, expert counseling services are available to help interpret results and plan further steps

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